Titel: (Expanded) carrier screening: possibilities and challenges

Termin: 6.10.2014, 12:30 Uhr, bis 6.10.2014, 17:30 Uhr

Veranstaltungsort:
Holy Spirit College, Naamsestraat 40, 3000 Leuven

Referenten: Sandra Janssens (Ghent University), Kim Holtkamp (VU University Medical Center Amsterdam), Davit Chokoshivili (Ghent University, University of Leuven), Aviad Raz (Department of Sociology and Anthropology, Ben-Gurion University of the Negev, Israel), Pascal Borry (Department of Public Health and Primary Care, University of Leuven), Greg Stapleton (Maastricht University)

Weitere Informationen:
http://www.surveygizmo.com/s3/1765749/6-October-carrier-screening-meet ...

Kurzbeschreibung: When both partners are identified as carriers of the same autosomal recessive disease, they have a 1-in-4 risk of having a child affected with this disease in each pregnancy. While screening during pregnancy is considered most practical, the preconception period is generally seen as the ideal timing, because it results in more reproductive options being available, with more time to make an informed decision. Currently, population-based carrier screening is typically performed for relatively common, single-gene recessive disorders associated with significant morbidity and reduced life-expectancy. Examples are carrier screening for cystic fibrosis (CF) (offered in countries including the United States, Australia, Italy, Israel) and ß-thalassemia (offered in e.g. Cyprus, Sardinia, Israel). Other examples include limited panels of disorders aimed at specific communities such as the Ashkenazi Jewish population, which have dramatically lowered the number of children affected with diseases such as Tay-Sachs.

In contrast to a diagnostic testing, for carrier screening - in the absence of a family or personal history of the disease - the tested mutations are usually restricted to the most frequent variants with known pathogenicity. With the introduction of new technologies, it is now possible to not only detect a much larger set of mutations, but also to simultaneously screen for many more diseases at a faster turnaround time for lower costs. Moreover, while most of the current screening programs are ethnicity-based, expanded carrier screening allows for screening all patients regardless of ethnicity, which increases equity and reduces the chance of stigmatization of ethnic groups. An increasing number of commercial laboratories, also in Europe, already offer panels for carrier screening for over 100 diseases. The expected near-future implementation of expanded panels in regular health care will pose a major challenge for physicians offering these tests. Responsible implementation of expanded carrier screening requires consideration of many technical, ethical, legal, and social questions. For example: which diseases and mutations to include? What are public and professional attitudes and preferences? How to optimize pre-test education, post-test counseling and facilitate informed decision-making?

Kontakt: http://gbiomed.kuleuven.be/english/research/50000687/50000697/agenda/expanded-carrier-screening-possibilities-and-challenges

Veranstalter: Interfaculty Centre for Biomedical Ethics and Law, Katholieke Universiteit Leuven

Schlagworte: Genetische Tests/Beratung, Genomanalyse, Humangenetik, Medizinische Ethik